Download Gene Section ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Gene Section
Mini Review
ERCC8 (excision repair cross-complementing
rodent repair deficiency, complementation group
8)
Anne Stary, Alain Sarasin
Laboratory of Genetic Instability and Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue
guy Moquet, BP 8, 94801 Villejuif, France (AS, AS)
Published in Atlas Database: September 2001
Online updated version : http://AtlasGeneticsOncology.org/Genes/CSAID301.html
DOI: 10.4267/2042/37805
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2002 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Identity
Protein
Other names: CSA (Cockayne syndrome A); CKN1;
ERCC8
HGNC (Hugo): ERCC8
Location: 5q12.1
Description
396 amino acids - 44 kDa.
Function
The Cockayne syndrome group A (CSA) gene encodes
a WD repeat protein that interacts with the Cockayne
syndrome group B (CSB) protein and a subunit of RNA
polymerase II transcription factor TFIIH suggesting
that the products of CSA and CSB genes are involved
in transcription. The CSA defect leads to defective
strand specific repair of transcriptionally active genes.
Mutations
Germinal
One base substitution.
Implicated in
Cockayne syndrome, CS group A
Note: See also the paper on Nucleotide Excision
Repair.
Disease
The Cockayne syndrome A is characterized by
sensitivity to sunlight, dwarfism, precociously senile
appearance, pigmentary retinal degeneration, optic
atrophy and deafness.
DNA/RNA
References
Transcription
Cleaver JE, Volpe JP, Charles WC, Thomas GH. Prenatal
diagnosis of xeroderma pigmentosum and Cockayne
syndrome. Prenat Diagn. 1994 Oct;14(10):921-8
CSA (5) - Courtesy Mariano Rocchi, Resources for Molecular
Cytogenetics.
2011 b.
Atlas Genet Cytogenet Oncol Haematol. 2002; 6(1)
11
ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)
Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski
R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV,
Friedberg EC. The Cockayne syndrome group A gene encodes
a WD repeat protein that interacts with CSB protein and a
subunit of RNA polymerase II TFIIH. Cell. 1995 Aug
25;82(4):555-64
monoallelic mutation analysis in somatic cell hybrids. Hum
Mutat. 1997;10(4):317-21
Sarasin A, Stary A. Human cancer and DNA repair-deficient
diseases. Cancer Detect Prev. 1997;21(5):406-11
Tu Y, Bates S, Pfeifer GP. The transcription-repair coupling
factor CSA is required for efficient repair only during the
elongation stages of RNA polymerase II transcription. Mutat
Res. 1998 May 25;400(1-2):143-51
Bregman DB, Halaban R, van Gool AJ, Henning KA, Friedberg
EC, Warren SL. UV-induced ubiquitination of RNA polymerase
II: a novel modification deficient in Cockayne syndrome cells.
Proc Natl Acad Sci U S A. 1996 Oct 15;93(21):11586-90
Conforti G, Nardo T, D'Incalci M, Stefanini M. Proneness to
UV-induced apoptosis in human fibroblasts defective in
transcription coupled repair is associated with the lack of
Mdm2 transactivation. Oncogene. 2000 May 18;19(22):271420
Itoh T, Shiomi T, Shiomi N, Harada Y, Wakasugi M,
Matsunaga T, Nikaido O, Friedberg EC, Yamaizumi M. Rodent
complementation group 8 (ERCC8) corresponds to Cockayne
syndrome complementation group A. Mutat Res. 1996 Feb
15;362(2):167-74
Hanawalt PC. DNA repair. The bases for Cockayne syndrome.
Nature. 2000 May 25;405(6785):415-6
Ozdirim E, Topçu M, Ozön A, Cila A. Cockayne syndrome:
review of 25 cases. Pediatr Neurol. 1996 Nov;15(4):312-6
Khan GQ, Hassan G, Yaseen M, Masood T, Hajini GH, Akhtar
D, Qureshi T. Cockayne syndrome. J Assoc Physicians India.
2000 Nov;48(11):1119-21
Stefanini M, Fawcett H, Botta E, Nardo T, Lehmann AR.
Genetic analysis of twenty-two patients with Cockayne
syndrome. Hum Genet. 1996 Apr;97(4):418-23
Luo Z, Zheng J, Lu Y, Bregman DB. Ultraviolet radiation alters
the phosphorylation of RNA polymerase II large subunit and
accelerates its proteasome-dependent degradation. Mutat Res.
2001 Sep 4;486(4):259-74
van Oosterwijk MF, Versteeg A, Filon R, van Zeeland AA,
Mullenders LH. The sensitivity of Cockayne's syndrome cells to
DNA-damaging agents is not due to defective transcriptioncoupled repair of active genes. Mol Cell Biol. 1996
Aug;16(8):4436-44
McKay BC, Chen F, Clarke ST, Wiggin HE, Harley LM,
Ljungman M. UV light-induced degradation of RNA polymerase
II is dependent on the Cockayne's syndrome A and B proteins
but not p53 or MLH1. Mutat Res. 2001 Mar 7;485(2):93-105
Dianov GL, Houle JF, Iyer N, Bohr VA, Friedberg EC. Reduced
RNA polymerase II transcription in extracts of cockayne
syndrome and xeroderma pigmentosum/Cockayne syndrome
cells. Nucleic Acids Res. 1997 Sep 15;25(18):3636-42
This article should be referenced as such:
Stary A, Sarasin A. ERCC8 (excision repair crosscomplementing rodent repair deficiency, complementation
group 8). Atlas Genet Cytogenet Oncol Haematol. 2002;
6(1):11-12.
McDaniel LD, Legerski R, Lehmann AR, Friedberg EC, Schultz
RA. Confirmation of homozygosity for a single nucleotide
substitution mutation in a Cockayne syndrome patient using
Atlas Genet Cytogenet Oncol Haematol. 2002; 6(1)
Stary A, Sarasin A
12